Children's Health Research Institute(CHRI), Stanford Luci... | NCT02269865

Studies
Children's Health Research Institute(CHRI), Stanford Lucile Packard Children Hospital (LPCH) Protocol on Myotonic Dystrophy

NCT02269865

Sponsor

Stanford University

Status

Unknown status

Last Update Posted

Oct 21, 2014Estimated

Enrollment

40Estimated

Phase

Not provided

Conditions

Myotonic Dystrophy Type 1

Interventions

Not provided

Countries

United States

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Oct 2014

Overall Recruitment Status or Expanded Access Status

Unknown status

Last Known Status

Recruiting

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Dec 2013

Primary Completion Date

Dec 2016Estimated

Completion Date

Dec 2016Estimated

First Submitted Date

Dec 4, 2013

First Submission Date that Met QC Criteria

Oct 16, 2014

First Posted Date

Oct 21, 2014Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Oct 16, 2014

Last Update Posted Date

Oct 21, 2014Estimated

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

Brief Summary

Study to focus on the defining and managing the neuropsychological abnormalities of myotonic dystrophy and to find out if the neuropsychological abnormalities have any correlation with changes seen on Magnetic Resonance Imaging.

Detailed Description

Given the prevalence of DM, and assistance from The Myotonic Dystrophy Foundation (letter), we anticipate full recruitment of 8-17 year old subjects with DM1. The genetic counselor will help recruit 20 DM1 subjects, and 20 comparably aged controls, all of whom will complete MRI and neuropsychological tests. We anticipate full participation in evoked potential and blood tests, but estimate 30% will permit a lumbar puncture for CSF evaluation - done at the LPCH Ambulatory Procedure Unit with sedation as necessary. In total 40 MRIs will be done over 2 years, or 20 annually. Testing of Subjects

All neuropsychological evaluations will be performed in the morning in attempt to standardize wakefulness and stamina. Dr. Day's assessment of clinical status (~45 min) utilizes the Stanford myotonic dystrophy questionnaire, the University of Rochester MDHI, and the muscular impairment rating scale (MIRS)57, and records vital signs, current medications, spirometer, and disease history and progression. Given the frequency of sleep disorders in DM, subjects will complete the Affiliated Sleep Questionnaire, an online collection of extensive information in standardized format (see letter Dr. Mignot). After the clinical and neuropsychological assessments the subject and family members will have lunch prior to the MRI(75 min). In the mid-afternoon subjects will have evoked potentials in the Electrodiagnostics Lab(~90 min) followed by a lumbar puncture (if consenting) and blood draw in the LPCH APU(90 min). Subjects return home the same day, and Ms. Paulose contacts them several days later for feedback.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

40Estimated

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Define the neuropsychological abnormalities in Myotonic Dystrophy type 1	The outcome of these studies will determine detailed spatial localization of white matter changes in DM1 children for the first time, and will establish a quantitative baseline with which future studies can determine the time course of the changes. The outcome results will determine whether functional abnormalities (fMRI, neuropsychological function, and evoked potentials) increase as white matter integrity deteriorates, and will explore tract-specific alteration of these effects. Defining cellular pathophysiology and CNS biomarkers of neurological dysfunction in DM will determine disease mechanisms and treatment pathways, and facilitate design of clinical and preclinical studies.	2 years

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

20 subjects with Myotonic Dystrophy type 1 aged 8 to 17 years and 20 controls who are healthy volunteers or siblings of affected subjects.

Exclusion Criteria:

Accepts Healthy Volunteers

Yes

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

8 Years

Maximum Age

17 Years

Standard Ages

Child

Study Population

20 subjects with Myotonic Dystrophy type 1 aged 8 to 17 years and 20 controls who are healthy volunteers or siblings of affected subjects.

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Name	Role	Phone	Extension	Email
John W Day, MD, PhD	Contact	650-725-4341		jwday@stanford.edu

Overall Officials

Name	Affiliation	Role
John W Day, MD, PhD	Stanford University	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Lucile Packard Childrens Hospital, Stanford	Recruiting	Stanford	California	94304	United States

Condition Browse Module

MeSH Terms

ID	Term
D009223	Myotonic Dystrophy

Ancestor Terms

ID	Term
D009136	Muscular Dystrophies
D020966	Muscular Disorders, Atrophic
D009135	Muscular Diseases
D009140	Musculoskeletal Diseases

Browse Leaves

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Browse Branches

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